No paralogue variants have been mapped to residue 1752 for RYR1.
RYR1 | ACRSRRSMLSEYIVPLTPETRAITLFPPGR>S<TENGHPRHGLPGVGVTTSLRPPHHFSPPCF | 1782 |
RYR2 | YATARLMMNNEYIVPMTEETKSITLFPD-->-<---ENKKHGLPGIGLSTSLRPRMQFSSPSF | 1768 |
RYR3 | AKERKLMMKNEYIIPITSTTRNIRLFPD-->-<---ESKRHGLPGVGLRTCLKPGFRFSTPCF | 1672 |
cons | > < |
Protein | CDS | Disease Classification | Disease | dbSNP links | Effect Prediction |
---|---|---|---|---|---|
p.S1752G | c.5254A>G | Putative Benign | SIFT: Polyphen: | ||
p.S1752N | c.5255G>A | Putative Benign | SIFT: Polyphen: |